The life and times of Bridget's family as they navigate an unexpected journey with a rare genetic syndrome

Name change

At the beginning of the summer we took Bridget to see a Specialist 20 hours away from our home in the hopes to find an answer to Bridgetitis. We had gone on a search for our own Dr. House. We allowed them to perform Exome sequencing, where Bridget’s DNA would be (in layman’s terms since I really am not a scientist) broken down and reviewed by computer strand by strand allows the scientist to discover where the gene may have gone awry.

We got the results. Finally.

It was mind blowing and this might ramble so bear with me.

The short story:They found the gene that is mutated, PACS1 with related intellectual disability syndrome. We were given a gift as this gene mutation was not hereditary (something Abby and my nephews/nieces won’t have to worry about passing on) and best news ever:

Bridget would not have a shorter life due to the mutation.

The epic story:
When we were called by the specialist from Georgia with the results she admitted she had never heard of this mutation before, however there was a research paper written in regards the discovery of two boys who had the malformation and similar characteristics.

In Europe.

As with our local doctor we were told that this type of science, Exome sequencing, is in the infant stages. It is being fast-tracked to discover rare and what they call “orphan” diseases. Very few patients are able to undergo the testing as the politics, hospital and insurance policies make it sometimes difficult to perform. If we had gone through the regular channels it would have taken potentially a year or more to have the testing done. If we were even approved.

Instead, we paid out of pocket for the physician and the laboratory company handled all of the insurance paperwork for us. Which I should probably say a novena in thanks. It was a one time in clinic visit followed by a telephone follow-up to find the results.

It was worth every bit of overtime David had to work.

The doctor in Georgia was beyond honest, telling me she was handing me results and limited information. From here I would have to work with Bridget’s home team and my own discoveries. Thankfully Bridget’s geneticist is beyond approachable and was more than happy to take the results and find out more information.

Yet we could not get in to see him until after January.

I did not want to wait that long. I have never claimed to be patient when it comes to Bridget’s health. Here is where Fate steps in.

The fate story:
About 10 years ago I began working in clinical research administration. When the Georgia doctor told me there was a paper written on the PACS1 gene I knew where to look for the information.

I did not understand most of what was written, again not a scientist. What I did understand was that Bridget had the characteristics discovered in the two boys (other than the testicles). That while she might not look like the boy pictured, they both had the dysmorphia of their facial features.

At the top of every clinical study paper authors are listed by how much they contributed to the project. In this case there was a caveat that all equally participated. Great news for me, as when I used Google to find them most were in the Netherlands. Except one.

Who is a professor at a University in North Carolina.

I stalked used the web to find this doctor’s e-mail address. Instead of arresting me or putting my request into his junk mail folder, he not only answered my e-mail, he also forwarded it to another doctor more involved in the follow-up of the study patients. He answered within two hours.

With hope.

Since that paper was written in 2012, 20 other children and young adults have been found to have the PACS1 malformation. He asked if I had any specific questions (of course I did) and again answered within a day. The doctors also put me into contact with the group of parents who have been diagnosed. We now have more people in our village.

Although there isn’t a named syndrome for the PACS1 malformation, they do have some answers. The children are (like Bridget) slow to speak, yet some have begun to read and write. They have poor mobility issues, but with therapies become more independent.

The children have intelligence in the low-range, tend to be smaller (there goes that basketball scholarship) and have autistic features yet most are friendly and sociable. The more I corresponded with this doctor the more thankful I am that he was not only approachable but willing to do something.

My e-mail to him came to him at the most opportune (fateful?) time. He and the lead physician on the study were at a Genetics conference in San Diego. They requested if I would share Bridget’s results with them so they could collaborate with their colleagues.

Of course I said yes. I reached out to our local geneticist with the correspondence. He was upset, not that I found the doctors, but that he was unable to attend the conference due to scheduling conflicts. He immediately contacted his own colleagues who were at the conference and asked them to connect with the doctors I had found.

Fate. God. Karma. I don’t know what. I don’t care what. After five years we might still not have a name, but we have a culprit.

The Hope Story:

Never give up hope. If I have to shout it from the roof tops never give up when a doctor (or anyone) tells you your child will be okay or that they will never do more than sit in the corner and drool. If your doctor (or hospital) will not perform testing that you feel would benefit your child, find another one. We traveled 20 plus hours by car and paid out of pocket for a consultation with the Georgia doctor. Even if we received no answer we would have know that we didn’t give up hope.

Continue fighting for your child. The answer is out there. Believe in yourself and your child. Continue to allow them to amaze you at their potential.

Bridget’s journey is not over. She is still technically undiagnosed as there is no syndrome attached to the gene malformation. It is the parent of all the other diagnoses in her medical history. Which is good news in a way because I don’t have to change this blog’s name. Yet.

I do think PACS1 mutation with related intellectual disability needs a name change.

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35 thoughts on “Name change”

OH MY WORD, HOW EXCITING! You have people who know exactly what you are going through. You have doctors who are knowledgeable and quick to answer questions. You have a name, a thing to point to to explain Bridget’s difficulties. And it isn’t something that will take Bridget away from you prematurely. I am so happy for you.

Just so happy that you do finally have some answers, because I know from reading your blog and getting to know you that have been fighting this good fight for some time now. So although there isn’t quite a cure at this stage (I will be praying hard there will be) at the very least you have a starting point and maybe just maybe can now get to the bottom of it all. Thank you for sharing and I do feel this is truly such a great step in the right direction for Bridget and your family. Hugs.

Oh Kerri, I have goosebumps. You tenacity i s so inspiring… and so is the message of hope. Yes, karma certainly lined it all up. I’m so excited that you have some answers and a greater support network! Props to those doctors who were so accessible. That , sadly, is rare!

Wow. That’s a lot of info but I drank it in. I have chills too. And I love all of the helpful doctors! And I love the name Bridgetitis. You could always say, “Diagnosed But Okay.” I don’t know! You’ll think of something, and I just bet you will have to make that change..

It has been probably a month or longer since I have blogged or read blogs … then I come on here and read this?! I am so excited for you, for her, for all of you. I would get up and do a happy dance, but this cold weather has my joints so stiff that I’m likely to bust something other than a move if I tried to dance right now. 🙂 This news is fantastic!!!

I can’t believe I didn’t see this post earlier…(well, maybe being offline a lot had something to do with it, but still…). The short version in the beginning was enough for me to send you a huge woo-hoo and virtual hug! The rest of the story/post was fascinating, uplifting, and yes, fateful. AND, most importantly, it demonstrated that Bridget is so lucky to have a mom and dad that will do anything and everything for her and never ever give up hope. That last point spoke to me a lot too. We were told that Big Dude may never speak. I refused to accept that or believe that and did everything in my power to prove that stupid, idiotic, social worker (or whoever she was, i can’t even remember anymore) that she was f-ing wrong. And she was. 🙂 And yes, I LOVE the name Bridgetitis.

What an amazingly fantastic story, Kerri! You are so right! There is always reason to hope and I hope all this new found info will prove to be of great help to you in making decisions and caring for Bridget!

You already know how happy I am for you but I want to say again that you and David rock for making the long trip (even though you didn’t stop by my house and drink with me) and for not taking no for an answer. Bridgetitis is an awesome name! Or Booness! I’m so glad too that you’re finding more parents to make your village bigger. That part is incredible. And thank GOD there’s no decreased life span. Hugs and high fives, you!

Wow, just WOW!!! I know exactly how exciting this is for you all. And it sounds as though the prognosis is better than you might have feared too. Reading this has also made me determined to overcome the impediment to Smiley taking part in the Cambridge Genome project. I really see now just how worthwhile it could be, thank you xxxx

You really should, if given the opportunity. Even if we had been told there was no answer, we would have known we did everything we could to find the cause. Even though the PACS1 Syndrome is so small, only 20 children, it provides some much needed answers.

You forgot to mention another component to Fate, Karma and what-not. Persistence, Friend. All of your work and (stalking) and questions and answers – you (and your family) are the finders and the doers and I am proud of you. Keep Rocking, you are doing such good work with your actions and words, not only for your daughter and your family, but for those you do not know you are reaching.

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(c) Kerri Ames and Undiagnosedbutokay.com (2011 through current date). Unauthorized use and/or duplication of this material without express and written permission from this blog’s author and/or owner is strictly prohibited. Excerpts and links may be used, provided that full and clear credit is given to Kerri Ames and/or Undiagnosed but Okay with appropriate and specific direction to the original content.